I-Spinal Muscular Atrophy - i-SMA

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Ubume be-Spinal Muscular Atrophy-SMA

I-spinal muscular atrophy (i-SMA) isifo esingaqhathaniswa nesifo se-genetic esichaphazela ukulawula iimbulunga ukusuka kwintambo yomgogodla kunemisipha yokuzithandela. I-SMA ibuhlungu kakhulu abantwana.

Umntwana ophethe i-SMA uya kuba nokuphazamiseka kwemisebenzi ebalulekileyo njengokuphefumla, ukuswa nokugwinya. Imiqathango eyongezelelweyo ingaveliswa yile mphene. Ngokomzekelo, imizila engavamile yokusila ingakhula ngenxa yeemisipha ezinobuthakathaka, ukuqhubekisa ngakumbi inkqubo yokuphefumla ngokucwangcisa imiphunga.

Ngaphambi kokufika kwezibilini zokutya, ukuphazanyiswa ekugwinzeni kubangele kubangele ukufa kwiimeko ze-SMA hlobo 1 (uhlobo olubi kakhulu). Kukho izixhobo ezininzi zokuncedisa ukugcina abantwana be-SMA bephila (kwaye bakhululekile, ubuncinane ngokumalunga neminyaka edlulileyo). Nangona kunjalo, ingozi ikhona. Omnye ukhahlela. Ukukhethwa kunokwenzeka ngenxa yokuba umntwana ophethe i-SMA unobungozi bokugwinya kunye nokuhlamba. Omnye umngcipheko unomnqweno okanye ukuxiliswa kokutya. Ukuphefumlelwa kungavimbela indlela yokuhamba kwendlela kunye nokuba ngumthombo wesifo.

I-SMA ibonakalisa ngeendlela ezininzi, eza kuhluka ngokukodwa ngohlobo. Kuzo zonke iindidi ze-SMA, unokulindela ubuthathaka obuthathaka, ukutshabalalisa, kunye ne-atrophy, kunye neengxaki zokulungelelanisa imisipha. Isizathu salo silele kwisimo sesi sifo ngokwaso: I-SMA ichaphazela ukulawulwa kwemizwa yezihlunu ngokuzithandela.

Akukho nonyango ye-SMA. Isibhengezo esithembisayo kakhulu sivela malunga nokufumanisa kwangaphambili. Uphuhliso lwezonyango lunokunceda ukulawula iingxaki ezinxulumene ne-SMA.

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I-Genetics ye-Spinal Muscular Atrophy-SMA

I-SMA iyisifo esingaqhelekanga sesifo. Ukuqonda le sifundo esifutshane sebhaloji kulandelelaniswa:

Kukho iinxalenye zeeseli nganye emzimbeni womntu ofumana imiyalelo evela kwiijethi. Iindawo zeeseli ezifumana imiyalelo, ngokwemvelo, protien. Xa imiyalelo iqulethe impazamo, oku kubizwa ngokuthi kucinywa. Kwi-SMA, imiyalelo enikwe kwiimvungu ezilawula imisipha iqulethe ukususwa okubangela ukusilela kweprotien. Umthwalo onoxanduva lokufundisa imoto ye-neurons ibizwa ngokuba yi-SMN 1, okanye i-neuron ye-motor survival.

Umntu ngamnye unamabini amabini weeshijethi kwimfundiso nganye enikezelwayo: umgubo omnye uzuze kumama kunye noyise. Ezinye izifo ziza kubonakala ukuba enye yegesi ezuze ilifa iqulethe impazamo yomyalelo. Ezinye izifo, ezifana ne-SMA, zidinga iigeni zowamazi kunye neyise ukuba ziphethe impazamo phambi kokuba isifo sifumaneke. I-SNM 1 (i-gene protective neuron) i-gene, ejongene ne-SMA, yenye yezo ntlobo zegesi. Oku kuthetha ukuba ukuba umntwana abe ne-SMA, bobabini abazali kufuneka banikele nge-SMN 1 ngemigaqo engafanelekanga (ukususwa okukhankanywe ngasentla). Nangona kunjalo, ithuba li-1 kwi-4 ngokukhulelwa ukuba umntwana uya kuba ne-SMA. Omnye kwabadala abangama-40 bayithwala imithwalo yemfuza eyenza i-SMA.

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Iintlobo ze-Spinal Muscular Atrophy

I-strown muscular atrophy ithinta 1 kwi-6,000 iintsana ezisandul 'ukuzalwa. Yimbangela ebangela ukufa kwabantwana abangaphantsi kweminyaka yobudala 2. I-SMA ayikho ilucalulo malunga nokuba ngubani ochaphazelayo. Kukho iintlobo ezininzi ze-SMA. Ezinye zidibene ne-SMN 1 (i-gene neuron gene gene) kwaye ixoxwa kule nqaku. Kukho nezinye iifom ze-SMA, njenge-Spinal Bulbar Muscular Atrophy (SBMA). I-SMA enxulumene ne-1 enxulumene ne-1 ihlelwe ngokubaluleka kunye nobudala bokuqala kweempawu; ubunzima bexinzelelo, inani leprotein ye-neurons, kunye (nokuqala) kwiminyaka yokuqala bonke bavame ukubonisa ukulungiswa komnye nomnye.

Ukuphuhliswa kwemivo kunye nengqondo ziqhelekileyo kwi-SMA.

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Iintlobo ze-Spinal Muscular Atrophy - I-SMA Type 1

Uhlobo lwe-1 lwe-SMA luyinkqonkqo kakhulu, echaphazela abantwana abangaphantsi kweminyaka eyi-2. Ukuxilongwa kohlobo lwe-1 lwe-SMA ludla ngokusetyenziswa kwiinyanga ezi-6 zokuqala. Iintsana ezine-type 1 ze-SMA azikwazi ukufumana ukufezekiswa kweemoto eziqhelekileyo ezifana nokutshiza ukugwinya, ukugqithisa, ukuhlala kunye nokukhwela. Abantwana abane-SMA hlobo 1 badla ukufa ngaphambi kweminyaka engama-2, ngokuqhelekileyo ngenxa yeengxaki zokuphefumula.

Iintsana kunye nohlobo lwe-SMA 1 luba lukhuni, lukhuni kunye ne-floppy. Iingcambu zabo zihamba ngendlela ye-worm-like and they can not hold their head when they are placed in a position setting. Bangaba nobunzima obubonakalayo njenge-scoliosis, kwaye baya kuba nobuthakathaka bemisipha, ngokukodwa kwiimisipha ezihamba phambili ezikufutshane nomgudu. 1, 2

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Iintlobo ze-Spinal Muscular Atrophy-SMA Type 2

Uhlobo lwe-SMA 2, olubizwa ngokuba yi-Intermediate SMA, luhlobo oluqhelekileyo lwe-SMA. Ivumela ixesha lobomi ngaphezu kwe-SMA Type 1, kodwa i-short-life-normallypan. Indlela yokuphila ihamba ukuya kwi-20s okanye i-30s. Usulelo lwe-respiratory yiyona nto ibangela kakhulu ukufa kuhlobo 2. I-SMA hlobo 2 iqalisa phakathi kweenyanga ezi-6 neye-18 okanye emva kokuba umntwana ubonise ukuba unokuhlala ngaphandle kokuxhaswa (emva kokufakwa kwindawo ehleliyo).

Iimpawu zohlobo lwe-2 ziquka ukubola, ukulibaziseka kweemoto, ukwandisa izihlunu zethole kunye nokudumala kwiminwe. Izisipha ezixhasayo ezikufutshane nomgudu zichaphazelekayo kobuthathaka bokuqala; imilenze iya kuba buthathaka phambi kweengalo. Abantwana abane-SMA yesi-2 abayi kuze bakwazi ukuhamba ngaphandle koncediso. Iindaba ezilungileyo kukuba umntwana ophethe i-SMA uya kukwazi ukwenza imisebenzi kunye neengalo kunye nezandla zakhe, njenge-keyboarding, ukondla, njl. Kuye kwaphawula ukuba abantwana abane-SMA hlobo 2 banengqiqo. Ulwaphulo lwezonyango, izixhobo zokuncedisa kunye nezihlalo zamasondo ezinamavili ezinokuhamba zihamba ngendlela ende ekuncediseni ubomi obunentsingiselo kubantwana abane-SMA hlobo 2.

Jonga i-2 kwiingxaki eziphambili nge-SMA Type 2

• Izisipha zokuzikhusela zingabangela izifo
• I-Scoliosis kunye / okanye i- kyphosis inokuphuhliswa ngenxa yobuthakathaka bomzimba.

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Iintlobo ze-Spinal Muscular Atrophy-I-SMA Iintlobo 3 no-4

I-SMA yohlobo lwe-3, eyaziwa nangokuthi Sild SMA, iqala emva kweenyanga ezili-18, okanye emva kokuba umntwana ethathe amanyathelo ama-5 ahambayo ngokwawo. Abantu abane-SMA abanobuhle baphila ixesha elide kwaye banokuba nemisebenzi yolwazi ehlotshiswe ngempumelelo. Abantu abane-SMA hlobo 3 badla ngokuxhomekeke kwizixhobo zokuncedisa, kwaye babo bonke ubomi babo kufuneka bajonge apho bahlala khona ngokubhekiselele kumngcipheko wabo wokuphefumula kunye nomngcipheko wokuphefumula . Bavame ukuyeka ukuhamba ixesha elithile ebomini babo. Xa bayeke ukuhamba bahluka phakathi kolutsha kunye no-40s.

Ngelixa abantwana abane-SMA be-3 bangahamba kwaye bahambe, kukho ubuthathaka bemisipha kunye nokutshabalalisa izidumbu ezithintekayo, oko kukuthi abo basondele kwisigxina.

Kukho uhlobo lwe-4 lwe-SMA - i-SMA yokuqalisa abantu abadala. Uhlobo lwe-4 lubonisa ngokubanzi xa umntu esezakhe okanye ama-30s. Njengoko unokuba uqagele, uhlobo lwe-SMA luhlobo oluthile kakhulu ekuqhubekeni kwesi sifo. Iimpawu zohlobo lwe-4 zifana nezo zohlobo lwe-3.

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Ukuxilongwa nokuVavanywa kwe-Spinal Muscular Atrophy-SMA

Isinyathelo sokuqala ekufumaneni ukuxilongwa kukuba ngabazali okanye abanakekeli baqaphele iimpawu ze-SMA kumntwana wabo. Ezi zimpawu zachazwa kumaphepha angaphambili ale nqaku. Ugqirha kufuneka athathe ingxelo yonyango yenkcazo yomntwana, kubandakanywa nembali yentsapho kunye nokuhlolwa ngokomzimba.

Kukho iintlobo ezininzi zeemvavanyo ezisetyenziselwa ukuxilonga i-SMA:

• Ukuhlolwa kwegazi
• I-biopsy ye-Muscle
• Iimvavanyo zeGenesis
• EMG

Imiba eninzi iveliswa malunga nokuvavanywa kwe-SMA kubantwana, kunye nokuvavanya abazali ukuba babe ngabaphathi beendawo. Ngo-1997, uvavanyo lwe-DNA, olubizwa ngokuba luvavanyo lwe-PCR oluninzi lwe-SMN1, lwaluphuma emakethe ukuze luncede abazali bafumane ukuba baphethe i-gene mutant eyenza i-SMA. Uvavanyo luqhutywa ngokuthatha isampuli yegazi. Ukuvavanya uluntu jikelele lulunzima kakhulu, ngoko kugcinelwe abo babenabantu abane-SMA kwintsapho yabo.

Uvavanyo luyakwazi ukuhamba ngokukhawuleza kunye nama-amniocenteses okanye i-chorionic villus.

Icandelo leZibonelelo kweli nqaku linolwazi malunga nokuba uya kuhlola phi

.

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Unyango lwe-Spinal Muscular Atrophy-SMA

Ulwaphulo lwe-SMA lujolise ekuxhaseni ubomi, ukukhuthaza ukuzimela kunye / okanye ukuphucula ubomi bomgangatho wegulane. Imizekelo yokunyamekela kunye neyonyango iquka:

• ulungiso lwenyama
• ukusetyenziswa kwezixhobo zokuncedisa ezifana nezihlalo zabakhubazekile, oomatshini bokuphefumula kunye namathubhu okutya. Kukho izixhobo ezininzi zokuncedisa i-SMA. Kukulungele ukuxoxa ngale nto kunye neqela lakho lonyango.
• utyando olwenziwe ngumzimba

Oogqirha bancomela ukuba iintsapho zisebenze neqela leenkonzo zonyango kwiindlela ezahlukeneyo zemfundo. Isigulana se-SMA kufuneka sihlolwe ngokugqithiseleyo ngexesha lokuphila kwakhe. Ukucebisa nge-Genetic amalungu omndeni kubaluleke kakhulu.

Umsebenzi awufanele ugwenywe, kodwa usetyenziswe ngendlela enjalo ukukhusela ukukhubazeka, isivumelwano kunye nokuqina nokugcina ubuninzi bokuhamba kunye nokuguquguquka; Ngoko ke, akufanele kwenziwe kwimeko yokudinwa. Ukutya okufanelekileyo kuya kwenza isigulane sisebenzise izihlunu zabo.

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Izibonelelo ze-Spinal Muscular Atrophy-SMA

Uvavanyo lwe-Genetic lwe-SMA

• ILebhu yeDolox Diagnostic Laboratory kwiYunivesithi yaseOhio State
• ILebhu yePhilisi yePatholo ye-Molecular Pathology Laboratory kwi-Yunivesithi yasePennsylvania yaseSeptany

Ngolwazi olungakumbi - IiWebhsayithi kunye namaBakala

• Imindeni ye-Spinal Muscular Atrophy
• Umbutho we-Muscular Dystrophy
• Uqwalaselo lweNkqubo yokuPhepha
• I-ADAM yeZiko loLondolozo lwezeMpilo kwi-Spinal Muscular Atrophy

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I-Spinal Muscular Atrophy - i-SMA - iBhayibhile

I-Doctor's Guide Yokushicilela. Ukuvavanywa kweNkonzo yokuThengisa ngoku kufumaneke kwi-Spinal Muscular Atrophy. 6.2.97 Ukuhlaziywa ngo-Agasti 1, 2006.
2 Isibhedlele sabantwana seFiladelphia. Impilo Yomntwana Wakho - I-Spinal Muscular Atrophy. Ibuyiswa ngo-Agasti 1, 2006.
3 Tsao, Brian, MD, Stojic, Andrey, MD, PhD. eMedicine.com I-Spinal Muscular Atrophy 6.8.06. Ibuyiswa ngo-Agasti 1, 2006.
Umbutho we-Muscular Dystrophy. Amaqiniso Nge-Spinal Muscular Atrophy Ebuyiswa ngo-Agasti 1, 2006.
3 Imindeni ye-Spinal Muscular Isroes Issues Ibuyiswe ngo-Agasti 1, 2006.
4 I-NINDS I-Spinal Muscular Atrophy Page 6.26.06. Ibuyiswa ngo-Agasti 1, 2006.